PowerPoints | Podcasts


As we continue to establish our presence online, we will be conducting a series of webinars to help inform you about our ongoing research, as well as updates on patient care, and other APBDRF initiatives, all to be hosted by our global team of research experts.

Special Member Webinar (August 23, 2017)
The National Center for Advancing Translational Sciences: Catalyzing Translational Innovation in Rare Disease Research featuring Dr. Christopher Austin, Director of the NIH National Center for Advancing Translational Sciences.

Christopher P. Austin, M.D., Director, National Center for Advancing Translational Sciences, NIH

NCATS’ mission is to enhance the development, testing, and implementation of diagnostics and therapeutics across a wide range of human diseases and conditions. The Center collaborates with other government agencies, industry, academia, and the nonprofit community.

Before joining NIH in 2002, Dr. Austin directed research and drug development programs at Merck, with a focus on schizophrenia. In 2016, he was elected chair of the International Rare Disease Research Consortium (IRDiRC).

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(1) The IRDIRC Consortium reports indicate that heterogeneous rare diseases, like APBD, must use the Crossover design to conduct sound clinical trials. As you know, the Crossover design has the same patients under treatment at one point also serve as their own control at another point, thereby removing the potential for patient variability confounding the results of the clinical trial.

(2) Its not an accident that the adaptive clinical trial design is put on the to-do list. This design was mentioned by the new FDA Commissioner in the context of implementing the Cures Act. For rare diseases, it would allow a Crossover clinical trial to change dosages and other parameters in midstream to improve trial efficiency; unfortunately, it also increases the complexity of conducting such trials and analyzing their results.

(3) R&D for drug development is not the only R&D in decline. General R&D as a percent of the Federal budget was 12% in 1965, 5 percent in 1982, and under 4 percent today.

The Case for Guaiacol
 (February 28, 2017)

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11th Meeting of the APBDRF Scientific Advisory Board  

Abstracts (April 15, 2015)

10th Meeting of the APBDRF Scientific Advisory Board

– 2013 Research Update (December 5, 2013)

– GBE Interactions with Membranes: Implications in APBD 
(December 5, 2013)

Previous Webinars

Nutrition for the APBD patient with Mary Wallace MS RD/LD, CCRC (October 19, 2012)

– Molecular Characterization of Polyglucosan Body, Cause or Consequence in the Disease (October 2012)

– Advances in APBD Research: High Content Screening, Antisense oligonucleotides and computational drug design with Dr. Or Kahlon (June 2012).

– High Throughput Screening with Dr. Orhan Akman (June 2012).

– Glycogen Synthesis with Dr. Berge Minassian (June 2012).

Therapeutic Interventions Tested in APBD Models with Dr. Or Kakhlon, Dr. Alexander Lossos, Dr. H. Orhan Akman, Dr. Salvatore DiMauro (July 2011).

– Dr. Schiffmann’s SSIEM presentation:A double-blind placebo-controlled trial of triheptanoin in adult polyglucosan body disease.

This is a September 2016 presentation given at the SSIEM the Society for Inborn Errors of Metabolism annual meeting.

-Guaiacol deliberations a summary of 5 doctors'(Edwin Kolodny, MD; Or Kakhlon, Ph.D; H. Orham Akman, Ph.D.; andAlexander Lossos, MD. As well as Yoseph Caraco, MD, Head of the Clinical Pharmacology Unit, Hadassah Medical Center)


The FDA and the National Organization for Rare Diseases (NORD), have teamed up and chose through an application process, the APBDRF and 19 other rare disease communities to create a very patient-friendly natural history study registry for each.

In this podcast about his new initiative Daniel Levine interviews GFPD President and Co-Founder Melissa Bryce Gamble. Although we encourage you to listen to all of the podcast at about 7 minutes she speaks about registries and natural history studies.


Daniel Levine interviews GFPD President and Co-Founder Melissa Bryce Gamble